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Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.
- Source :
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Journal of medical genetics [J Med Genet] 2018 May; Vol. 55 (5), pp. 307-315. Date of Electronic Publication: 2018 Mar 01. - Publication Year :
- 2018
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Abstract
- Background: Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature. Scoliosis and growth hormone insufficiency are also prevalent in PWS.There is extensive documentation of the endocrine and metabolic phenotypes for PWS, but not for SYS. This study served to investigate the hormonal, metabolic and body composition phenotype of SYS and its potential overlap with PWS.<br />Methods: In nine individuals with SYS (5 female/4 male; aged 5-17 years), we measured serum ghrelin, glucose, insulin-like growth factor 1 (IGF-1), insulin-like growth factor binding protein 3, follicle-stimulating hormone, luteinising hormone, thyroid-stimulating hormone, free T4, uric acid and testosterone, and performed a comprehensive lipid panel. Patients also underwent X-ray and dual-energy X-ray absorptiometry analyses to assess for scoliosis and bone mineral density.<br />Results: Low IGF-1 levels despite normal weight/adequate nutrition were observed in six patients, suggesting growth hormone deficiency similar to PWS. Fasting ghrelin levels were elevated, as seen in individuals with PWS. X-rays revealed scoliosis >10° in three patients, and abnormal bone mineral density in six patients, indicated by Z-scores of below -2 SDs.<br />Conclusion: This is the first analysis of the hormonal, metabolic and body composition phenotype of SYS. Our findings suggest that there is marked, but not complete overlap between PWS and SYS.<br />Competing Interests: Competing interests: None declared.<br /> (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
- Subjects :
- Adolescent
Autism Spectrum Disorder genetics
Autism Spectrum Disorder physiopathology
Blood Glucose genetics
Bone Density
Child
Child, Preschool
Developmental Disabilities genetics
Developmental Disabilities physiopathology
Feeding and Eating Disorders blood
Feeding and Eating Disorders genetics
Feeding and Eating Disorders physiopathology
Female
Follicle Stimulating Hormone blood
Ghrelin blood
Humans
Insulin-Like Growth Factor Binding Protein 3 blood
Insulin-Like Growth Factor I metabolism
Luteinizing Hormone blood
Male
Muscle Hypotonia blood
Muscle Hypotonia genetics
Muscle Hypotonia physiopathology
Prader-Willi Syndrome genetics
Prader-Willi Syndrome physiopathology
Proteins genetics
Scoliosis genetics
Scoliosis physiopathology
Testosterone blood
Autism Spectrum Disorder blood
Developmental Disabilities blood
Prader-Willi Syndrome blood
Scoliosis blood
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 55
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 29496979
- Full Text :
- https://doi.org/10.1136/jmedgenet-2017-105024